Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.

European journal of human genetics : EJHG - 1 Nov 2024

Vos Niels, Kleinendorst Lotte, van der Laan Liselot, van Uhm Jorrit, Jansen Philip R, van Eeghen Agnies M, Maas Saskia M, Mannens Marcel M A M, van Haelst Mieke M

Abstract excerpt

The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia, obesity, macrocephaly and psychiatric problems. Cases with 16p11.2 duplication syndrome have similar neurodevelopmental problems, but typically show a partial 'mirror phenotype' with underweight and microcephaly. Various copy number variants (CNVs) of the chromosomal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autistic Disorder
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 16

Share to Developmental Disabilities

Share to Netherlands

Share to Precision Medicine

Source

Open in PubMed Open full text

Identifiers

PMID: 38605127
DOI: 10.1038/s41431-024-01601-2
PMCID: PMC11576736

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.PMID 38605127Read ↗

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.Semantic proximity Read ↗

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.Semantic proximity Read ↗

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.Semantic proximity Read ↗

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.Semantic proximity Read ↗

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.Semantic proximity Read ↗

Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children.Semantic proximity Read ↗

The pleiotropic spectrum of proximal 16p11.2 CNVs.Semantic proximity Read ↗

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.Semantic proximity Read ↗

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.Semantic proximity Read ↗

22q11.2 duplications: Expanding the clinical presentation.Semantic proximity Read ↗

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.Semantic proximity Read ↗

16p11.2 Duplication Syndrome - a Case Report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.